A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605494



Internal ID6972424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77707053..77707859hg38UCSC Ensembl
Innerchr5:77707053..77707859hg38UCSC Ensembl
Outerchr5:77706693..77708192hg38UCSC Ensembl
chr5:77002878..77003684hg19UCSC Ensembl
Innerchr5:77002878..77003684hg19UCSC Ensembl
Outerchr5:77002518..77004017hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11949209, essv11949201, essv11949199, essv11949197, essv11949206, essv11949194, essv11949198, essv11949200, essv11949196, essv11949207, essv11949202, essv11949203, essv11949211, essv11949210, essv11949208, essv11949204, essv11949195, essv11949205
SamplesNA18647, NA18627, HG03796, HG00448, HG01843, NA19088, NA18557, NA18985, NA18648, NA18747, NA19056, HG02025, NA18579, HG00479, HG02086, HG00525, NA18953, HG03642
Known GenesTBCA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605494
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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