A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585257



Internal ID6972781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13115091..13128750hg38UCSC Ensembl
chr1:13182563..13196202hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3813660
hg1913640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9859626, essv9859619, essv9859615, essv9859617, essv9859624, essv9859611, essv9859620, essv9859614, essv9859613, essv9859625, essv9859621, essv9859612, essv9859610, essv9859616, essv9859622, essv9859623, essv9859618
SamplesHG03228, NA19466, HG03941, NA19307, HG03693, HG01709, HG03760, HG02537, HG03823, HG03021, HG03971, HG01865, HG02408, NA18542, NA19321, HG01801, NA19438
Known GenesHNRNPCP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585257
Frequency
Sample Size2504
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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