A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593429



Internal ID6980753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175690600..175705864hg38UCSC Ensembl
Innerchr2:175690600..175705864hg38UCSC Ensembl
Outerchr2:175690100..175706364hg38UCSC Ensembl
chr2:176555328..176570592hg19UCSC Ensembl
Innerchr2:176555328..176570592hg19UCSC Ensembl
Outerchr2:176554828..176571092hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3815265
hg1915265
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10765096
SamplesHG01801
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593429
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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