A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591232



Internal ID6631516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71485916..71489372hg38UCSC Ensembl
Innerchr2:71485929..71489360hg38UCSC Ensembl
Outerchr2:71485904..71489385hg38UCSC Ensembl
chr2:71713046..71716502hg19UCSC Ensembl
Innerchr2:71713059..71716490hg19UCSC Ensembl
Outerchr2:71713034..71716515hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg383457
hg193457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10539150
SamplesHG02481
Known GenesDYSF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591232
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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