A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592264



Internal ID6979591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123356247..123413810hg38UCSC Ensembl
Innerchr2:123356747..123413310hg38UCSC Ensembl
Outerchr2:123355247..123414810hg38UCSC Ensembl
chr2:124113823..124171386hg19UCSC Ensembl
Innerchr2:124114323..124170886hg19UCSC Ensembl
Outerchr2:124112823..124172386hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3857564
hg1957564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10653553, essv10653554
SamplesHG03963, NA19310
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592264
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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