A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1e214



Internal ID22755895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1457002..1492003hg38UCSC Ensembl
chr1:1392382..1427383hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3835002
hg1935002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584997, esv3584996
SamplesHG00536, NA19794, HG02648, NA11920, HG01280, NA18486, HG03298, HG01694, HG03464, NA19171, HG00109, HG04182, NA11918, HG03234, NA21108, NA20910, HG04214, HG00232, HG03693, NA19189, HG03844, HG00268, NA20314, NA18516, HG01607, HG01842, HG02725, NA12778, NA12546, NA19308, NA20870, NA12046, HG02232, HG03433, NA19438, HG03097, HG01556, HG01085, HG01631, HG02465, HG01509, HG03265
Known GenesATAD3B, ATAD3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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