A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637717



Internal ID6677818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:5057075..5061558hg38UCSC Ensembl
Innerchr16:5057575..5061058hg38UCSC Ensembl
Outerchr16:5056075..5062558hg38UCSC Ensembl
chr16:5107076..5111559hg19UCSC Ensembl
Innerchr16:5107576..5111059hg19UCSC Ensembl
Outerchr16:5106076..5112559hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384484
hg194484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15364005, essv15364017, essv15364041, essv15364031, essv15364034, essv15364037, essv15364023, essv15364028, essv15364035, essv15364047, essv15364002, essv15364013, essv15364006, essv15364032, essv15364021, essv15364029, essv15364040, essv15364048, essv15364004, essv15364015, essv15364049, essv15364001, essv15364027, essv15364026, essv15364033, essv15364036, essv15364025, essv15364009, essv15364043, essv15364008, essv15364046, essv15364010, essv15364022, essv15364007, essv15364011, essv15364014, essv15364030, essv15364045, essv15364042, essv15364044, essv15364038, essv15364003, essv15364018, essv15364012, essv15364024, essv15364039, essv15364016, essv15364020, essv15364019
SamplesHG02138, HG01852, HG00500, NA18612, HG00449, HG01794, NA19072, NA18639, HG00463, HG01850, NA18953, NA18972, HG00651, NA18965, NA18625, NA18626, HG01254, NA19726, HG02397, NA18622, NA19443, NA18644, NA19011, NA18636, HG00662, NA19000, NA19080, HG00559, HG01455, NA19002, NA18748, HG03800, NA19001, HG02364, NA18945, HG02026, HG02128, HG03589, HG00654, HG02079, HG02141, HG01808, HG01855, HG00625, HG01807, HG01863, HG02396, HG02512, NA18962
Known GenesC16orf89
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637717
Frequency
Sample Size2504
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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