A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593454



Internal ID6980778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176934647..176938021hg38UCSC Ensembl
Innerchr2:176934647..176938021hg38UCSC Ensembl
Outerchr2:176934446..176938217hg38UCSC Ensembl
chr2:177799375..177802749hg19UCSC Ensembl
Innerchr2:177799375..177802749hg19UCSC Ensembl
Outerchr2:177799174..177802945hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383375
hg193375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10770186, essv10770191, essv10770185, essv10770194, essv10770195, essv10770198, essv10770202, essv10770190, essv10770193, essv10770187, essv10770188, essv10770196, essv10770200, essv10770192, essv10770201, essv10770189, essv10770197, essv10770199, essv10770203
SamplesHG02890, NA18508, HG02888, NA19190, HG02756, HG03040, HG02111, NA19172, HG03120, NA19175, NA19391, HG01879, HG02429, HG02585, NA19147, HG03539, HG02814, NA19146, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593454
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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