A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671527



Internal ID9937632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210428015..210440839hg38UCSC Ensembl
chr1:210601359..210614183hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3812825
hg1912825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5749816, essv6446432, essv6266649, essv6509610, essv6200430, essv6227615
SamplesNA20356, NA19403, NA19717, NA19472, NA19468, NA19213
Known GenesHHAT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671527
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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