A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12116550



Internal ID2118366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160776877..160778115hg38UCSC Ensembl
Innerchr5:160776882..160778111hg38UCSC Ensembl
Outerchr5:160776873..160778120hg38UCSC Ensembl
chr5:160203884..160205122hg19UCSC Ensembl
Innerchr5:160203889..160205118hg19UCSC Ensembl
Outerchr5:160203880..160205127hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381239
hg191239
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607381
Supporting Variants
SamplesHG04206
Known GenesATP10B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12116550
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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