A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674123



Internal ID9593542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215684844..215689098hg38UCSC Ensembl
chr1:215858186..215862440hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384255
hg194255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5728517, essv6200052, essv5867385, essv5437269, essv5947945, essv6144556, essv5690495, essv5820134, essv6034044, essv5638740
SamplesNA20759, HG00280, HG00264, HG00343, NA19676, HG01437, NA20795, HG00377, HG00236, HG00251
Known GenesUSH2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674123
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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