A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10412007



Internal ID3204253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12909494..12911388hg38UCSC Ensembl
Innerchr2:12909518..12911364hg38UCSC Ensembl
Outerchr2:12909470..12911412hg38UCSC Ensembl
chr2:13049620..13051514hg19UCSC Ensembl
Innerchr2:13049644..13051490hg19UCSC Ensembl
Outerchr2:13049596..13051538hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg381895
hg191895
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589834
Supporting Variants
SamplesHG02813
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10412007
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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