A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592355



Internal ID6979682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127232172..127238215hg38UCSC Ensembl
Innerchr2:127232222..127238165hg38UCSC Ensembl
Outerchr2:127232114..127238273hg38UCSC Ensembl
chr2:127989748..127995791hg19UCSC Ensembl
Innerchr2:127989798..127995741hg19UCSC Ensembl
Outerchr2:127989690..127995849hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg386044
hg196044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10663640
SamplesHG02613
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592355
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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