A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611214



Internal ID6651434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149732724..149736321hg38UCSC Ensembl
Innerchr6:149732724..149736321hg38UCSC Ensembl
Outerchr6:149732626..149736365hg38UCSC Ensembl
chr6:150053860..150057457hg19UCSC Ensembl
Innerchr6:150053860..150057457hg19UCSC Ensembl
Outerchr6:150053762..150057501hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383598
hg193598
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12581004, essv12581010, essv12581003, essv12581007, essv12581009, essv12581013, essv12581006, essv12581014, essv12581008, essv12581012, essv12581011, essv12581005
SamplesNA20317, NA20318, NA19437, HG03132, HG02678, HG02497, NA19095, NA18909, NA18517, HG02580, HG03419, NA18505
Known GenesNUP43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611214
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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