A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591089



Internal ID6978417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64968549..64971858hg38UCSC Ensembl
Innerchr2:64968566..64971842hg38UCSC Ensembl
Outerchr2:64968533..64971875hg38UCSC Ensembl
chr2:65195683..65198992hg19UCSC Ensembl
Innerchr2:65195700..65198976hg19UCSC Ensembl
Outerchr2:65195667..65199009hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg383310
hg193310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10527191, essv10527203, essv10527193, essv10527196, essv10527184, essv10527200, essv10527188, essv10527192, essv10527197, essv10527185, essv10527194, essv10527195, essv10527204, essv10527201, essv10527186, essv10527199, essv10527190, essv10527198, essv10527202, essv10527189, essv10527187, essv10527183
SamplesNA19222, HG02944, HG03247, NA18917, HG02804, HG03572, HG03086, HG02621, NA20320, HG03485, NA19197, NA20291, HG03267, HG03114, HG03369, HG02450, HG02594, HG01990, NA19035, HG02051, HG02465, HG02284
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591089
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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