A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593558



Internal ID6980882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182052497..182128751hg38UCSC Ensembl
Innerchr2:182052525..182128723hg38UCSC Ensembl
Outerchr2:182052469..182128779hg38UCSC Ensembl
chr2:182917224..182993478hg19UCSC Ensembl
Innerchr2:182917252..182993450hg19UCSC Ensembl
Outerchr2:182917196..182993506hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3876255
hg1976255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10788442
SamplesNA19740
Known GenesPPP1R1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593558
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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