A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608022



Internal ID6994953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7984149..7987002hg38UCSC Ensembl
Innerchr6:7984199..7986952hg38UCSC Ensembl
Outerchr6:7984099..7987052hg38UCSC Ensembl
chr6:7984382..7987235hg19UCSC Ensembl
Innerchr6:7984432..7987185hg19UCSC Ensembl
Outerchr6:7984332..7987285hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg382854
hg192854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12183120
SamplesHG00190
Known GenesBLOC1S5-TXNDC5, PIP5K1P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608022
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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