A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591960



Internal ID6632244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110187644..110188357hg38UCSC Ensembl
Innerchr2:110187644..110188357hg38UCSC Ensembl
Outerchr2:110187331..110188617hg38UCSC Ensembl
chr2:110945221..110945934hg19UCSC Ensembl
Innerchr2:110945221..110945934hg19UCSC Ensembl
Outerchr2:110944908..110946194hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10615310, essv10615308, essv10615309
SamplesHG00657, HG00732, HG00684
Known GenesNPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591960
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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