A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735137



Internal ID3285633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128499440..128999664hg38UCSC Ensembl
Outerchr7:128139494..128639718hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38500225
hg19500225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919211, essv6743404, essv6705350, essv6814639, essv6845230, essv6712170, essv6771150, essv6969765, essv6939377, essv6822769, essv6676916, essv6818642, essv6964286, essv6715849, essv6907943, essv6866017, essv6805729, essv6911665, essv6904037, essv6778551, essv6762841, essv6943827, essv6952260, essv6687552, essv6694574, essv6927120, essv6897014, essv6930819, essv6786770, essv6849688, essv6834104, essv6701464, essv6795021, essv6811588, essv6684307, essv6911666, essv6893855, essv6957594, essv6698137, essv6671653, essv6975408, essv6830501, essv6712169, essv6690781, essv6861301, essv6881685, essv6897013, essv6841569, essv6808693, essv6771151, essv6705351, essv6939376, essv6795022, essv6828431, essv6826759, essv6701463, essv6746183, essv6964287, essv6890710, essv6975407, essv6837774, essv6855749, essv6731212, essv6899981, essv6837773, essv6814638, essv6911664, essv6708726, essv6841570, essv6890721, essv6731220, essv6802828, essv6690782, essv6719778, essv6799230, essv6763842, essv6763853, essv6671652, essv6855750, essv6915361, essv6923404, essv6923403, essv6952263, essv6915360, essv6743402, essv6858176, essv6948159, essv6782546, essv6875996, essv6701466, essv6743403, essv6845232, essv6822768, essv6935097, essv6948160
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM036, SSM055, SSM084, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM032, SSM039, SSM024, SSM067, SSM094, SSM083, SSM041, SSM077, SSM062, SSM012, SSM100, SSM085, SSM017, SSM011, SSM028, SSM029, SSM047, SSM073, SSM069, SSM021, SSM037, SSM034, SSM087, SSM038, SSM019, SSM023, SSM079, SSM068, SSM044, SSM074, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM081, SSM080
Known GenesATP6V1F, CALU, CCDC136, FAM71F1, FAM71F2, FLNC, IRF5, KCP, LINC01000, LOC100130705, METTL2B, OPN1SW, TNPO3
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2735137
Frequency
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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