A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593872



Internal ID6981194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195689403..195697875hg38UCSC Ensembl
Innerchr2:195689451..195697828hg38UCSC Ensembl
Outerchr2:195689356..195697923hg38UCSC Ensembl
chr2:196554127..196562599hg19UCSC Ensembl
Innerchr2:196554175..196562552hg19UCSC Ensembl
Outerchr2:196554080..196562647hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg388473
hg198473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10815229
SamplesNA19043
Known GenesSLC39A10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593872
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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