A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735116



Internal ID10318752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:126656763..126657528hg38UCSC Ensembl
Outerchr7:126296817..126297582hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38766
hg19766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805726, essv6694572, essv6774882, essv6845227, essv6698135, essv6969761, essv6915358, essv6767813, essv6884488, essv6822763, essv6975401, essv6923400, essv6790872, essv6826755, essv6754816, essv6930813, essv6719775, essv6690779, essv6841567, essv6875993, essv6763820, essv6873044, essv6837771, essv6731198, essv6746181, essv6814634, essv6964280, essv6701459, essv6948155, essv6708723, essv6727463, essv6743397, essv6684305, essv6939372, essv6799228, essv6798431, essv6904036, essv6712167, essv6731210, essv6786767, essv6935093, essv6957590, essv6931673
SamplesSSM036, SSM008, SSM083, SSM027, SSM024, SSM046, SSM064, SSM079, SSM038, SSM039, SSM013, SSM009, SSM074, SSM042, SSM041, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM003, SSM044, SSM066, SSM085, SSM072, SSM020, SSM007, SSM016, SSM053, SSM080, SSM037, SSM077, SSM022, SSM091, SSM055, SSM070, SSM095, SSM034
Known GenesGRM8
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)esv2735116
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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