A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10542576



Internal ID6166115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74843254..74844206hg38UCSC Ensembl
Innerchr2:74843254..74844206hg38UCSC Ensembl
Outerchr2:74843181..74844326hg38UCSC Ensembl
chr2:75070381..75071333hg19UCSC Ensembl
Innerchr2:75070381..75071333hg19UCSC Ensembl
Outerchr2:75070308..75071453hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38953
hg19953
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591289
Supporting Variants
SamplesNA19704
Known GenesHK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10542576
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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