A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593425



Internal ID6980749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175406606..175408021hg38UCSC Ensembl
Innerchr2:175406639..175407988hg38UCSC Ensembl
Outerchr2:175406573..175408054hg38UCSC Ensembl
chr2:176271334..176272749hg19UCSC Ensembl
Innerchr2:176271367..176272716hg19UCSC Ensembl
Outerchr2:176271301..176272782hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10764982
SamplesHG03132
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593425
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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