A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608482



Internal ID6648720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29577245..29584976hg38UCSC Ensembl
Innerchr6:29577246..29584975hg38UCSC Ensembl
Outerchr6:29577244..29584977hg38UCSC Ensembl
chr6:29545022..29552753hg19UCSC Ensembl
Innerchr6:29545023..29552752hg19UCSC Ensembl
Outerchr6:29545021..29552754hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg387732
hg197732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12240114, essv12240112, essv12240119, essv12240118, essv12240113, essv12240115, essv12240111, essv12240116, essv12240117
SamplesHG00127, HG02977, NA18507, HG02851, HG03126, HG03974, HG02624, HG02923, HG03105
Known GenesSNORD32B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608482
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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