A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593513



Internal ID6980837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179678170..179705062hg38UCSC Ensembl
Innerchr2:179678220..179705012hg38UCSC Ensembl
Outerchr2:179678094..179705138hg38UCSC Ensembl
chr2:180542897..180569789hg19UCSC Ensembl
Innerchr2:180542947..180569739hg19UCSC Ensembl
Outerchr2:180542821..180569865hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3826893
hg1926893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10783766, essv10783767
SamplesHG01982, HG00638
Known GenesZNF385B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593513
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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