A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591693



Internal ID6631977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96777167..96779952hg38UCSC Ensembl
Innerchr2:96777167..96779952hg38UCSC Ensembl
Outerchr2:96776941..96780124hg38UCSC Ensembl
chr2:97442904..97445689hg19UCSC Ensembl
Innerchr2:97442904..97445689hg19UCSC Ensembl
Outerchr2:97442678..97445861hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg382786
hg192786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10589084
SamplesNA19332
Known GenesCNNM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591693
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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