A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593499



Internal ID6980823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178988591..179022570hg38UCSC Ensembl
Innerchr2:178988591..179022570hg38UCSC Ensembl
Outerchr2:178988091..179023070hg38UCSC Ensembl
chr2:179853318..179887297hg19UCSC Ensembl
Innerchr2:179853318..179887297hg19UCSC Ensembl
Outerchr2:179852818..179887797hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3833980
hg1933980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10779422, essv10779421, essv10779417, essv10779418, essv10779413, essv10779424, essv10779423, essv10779415, essv10779414, essv10779416, essv10779419, essv10779420
SamplesHG03857, HG04222, NA20878, NA21115, HG04164, HG03808, HG03928, HG03781, HG03730, NA21087, HG04134, HG04099
Known GenesCCDC141
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593499
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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