A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592358



Internal ID6979685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127346070..127356471hg38UCSC Ensembl
Innerchr2:127346086..127356456hg38UCSC Ensembl
Outerchr2:127346055..127356487hg38UCSC Ensembl
chr2:128103646..128114047hg19UCSC Ensembl
Innerchr2:128103662..128114032hg19UCSC Ensembl
Outerchr2:128103631..128114063hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3810402
hg1910402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10663655, essv10663652, essv10663651, essv10663646, essv10663648, essv10663645, essv10663647, essv10663654, essv10663649, essv10663644, essv10663653, essv10663650
SamplesHG03520, HG03058, HG02479, HG02108, HG02508, HG01323, HG02429, HG03024, NA19834, HG00734, NA18501, HG02343
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592358
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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