A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656529



Internal ID9922634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:45180929..45185420hg38UCSC Ensembl
Outerchr13:45180892..45185470hg38UCSC Ensembl
Innerchr13:45755064..45759555hg19UCSC Ensembl
Outerchr13:45755027..45759605hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg384579
hg194579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6539814, essv5679180
SamplesNA19382, NA19385
Known GenesGTF2F2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656529
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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