A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10653553



Internal ID4454355
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592264
Supporting Variants
SamplesHG03963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10653553
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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