A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591953



Internal ID6632237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110096262..110194743hg38UCSC Ensembl
chr2:110853839..110952320hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3898482
hg1998482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv727e214
Supporting Variantsessv10615190, essv10615196, essv10615193, essv10615187, essv10615192, essv10615197, essv10615191, essv10615186, essv10615188, essv10615189, essv10615198, essv10615199, essv10615194, essv10615195
SamplesHG01944, NA18627, HG00127, NA18558, HG00120, HG00732, HG04162, HG03388, HG01075, HG01896, NA20348, HG01923, HG00581, HG00255
Known GenesMALL, NPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591953
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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