A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12240119



Internal ID2241935
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608482
Supporting Variants
SamplesNA18507
Known GenesSNORD32B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12240119
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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