A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656850



Internal ID9922955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121055496..121055648hg38UCSC Ensembl
chr4:121976651..121976803hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5716846, essv5492164, essv5701322, essv6433654, essv5865060, essv5790869, essv5442988, essv5950648, essv5902271, essv6219039, essv5684927, essv6472219, essv6049053, essv6083843, essv5472585, essv6395597, essv6470836
SamplesHG00699, NA18606, HG00693, NA18597, NA18638, HG00629, HG00443, HG00653, HG00556, HG00500, NA18548, NA18566, NA18536, NA18570, HG00607, HG00421, NA18623
Known GenesNDNF
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656850
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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