A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608794



Internal ID6995718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41985361..41988767hg38UCSC Ensembl
Innerchr6:41985418..41988711hg38UCSC Ensembl
Outerchr6:41985305..41988824hg38UCSC Ensembl
chr6:41953099..41956505hg19UCSC Ensembl
Innerchr6:41953156..41956449hg19UCSC Ensembl
Outerchr6:41953043..41956562hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg383407
hg193407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12328525, essv12328521, essv12328532, essv12328526, essv12328529, essv12328519, essv12328524, essv12328528, essv12328523, essv12328531, essv12328527, essv12328530, essv12328522, essv12328520
SamplesHG03015, HG01694, NA20769, HG01492, HG01519, NA20755, HG01162, NA21142, NA20516, HG00259, NA20502, HG01431, HG03815, HG01509
Known GenesCCND3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608794
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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