A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10527182



Internal ID2732597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64951426..64952851hg38UCSC Ensembl
Innerchr2:64951450..64952827hg38UCSC Ensembl
Outerchr2:64951402..64952875hg38UCSC Ensembl
chr2:65178560..65179985hg19UCSC Ensembl
Innerchr2:65178584..65179961hg19UCSC Ensembl
Outerchr2:65178536..65180009hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381426
hg191426
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591088
Supporting Variants
SamplesHG02402
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10527182
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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