A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10519560



Internal ID6668798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61407690..61413649hg38UCSC Ensembl
Innerchr2:61408190..61413149hg38UCSC Ensembl
Outerchr2:61406690..61414649hg38UCSC Ensembl
chr2:61634825..61640784hg19UCSC Ensembl
Innerchr2:61635325..61640284hg19UCSC Ensembl
Outerchr2:61633825..61641784hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385960
hg195960
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591016
Supporting Variants
SamplesNA20809
Known GenesUSP34
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10519560
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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