A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2734267

Internal ID9968594
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:37437651..37438025hg38UCSC Ensembl
Outerchr7:37477254..37477628hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856887, essv6890395, essv6731112, essv6884408, essv6782459, essv6767731, essv6794905, essv6827721, essv6957431, essv6748922, essv6694447, essv6790757, essv6952157, essv6676804, essv6811489, essv6887188, essv6705247, essv6723480, essv6814546, essv6841471, essv6964125, essv6818503, essv6774801, essv6822655, essv6830390, essv6826642, essv6899878, essv6927030, essv6893735, essv6712071, essv6805633, essv6939276, essv6837668, essv6698072, essv6849491, essv6778441, essv6923297, essv6865860, essv6799111, essv6834002, essv6687444, essv6969637, essv6715767, essv6701346, essv6684207, essv6903940, essv6975221, essv6907807, essv6881594, essv6808605, essv6719655, essv6930701, essv6797621, essv6786657, essv6708637
SamplesSSM010, SSM022, SSM027, SSM013, SSM082, SSM086, SSM084, SSM042, SSM040, SSM078, SSM043, SSM089, SSM064, SSM035, SSM025, SSM072, SSM020, SSM071, SSM032, SSM039, SSM045, SSM067, SSM094, SSM083, SSM097, SSM041, SSM077, SSM100, SSM056, SSM009, SSM011, SSM066, SSM028, SSM029, SSM095, SSM047, SSM069, SSM037, SSM034, SSM038, SSM019, SSM096, SSM079, SSM068, SSM044, SSM074, SSM075, SSM026, SSM014, SSM098, SSM018, SSM076, SSM081, SSM070, SSM080
Known GenesELMO1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2734267
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0

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