A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676357



Internal ID9595776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229331215..229332335hg38UCSC Ensembl
Outerchr1:229331058..229332488hg38UCSC Ensembl
Innerchr1:229466962..229468082hg19UCSC Ensembl
Outerchr1:229466805..229468235hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381431
hg191431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6042635, essv6296263, essv5982912
SamplesNA19102, NA18511, HG01061
Known GenesCCSAP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676357
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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