A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12594531



Internal ID2925950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:154742327..154748671hg38UCSC Ensembl
Innerchr6:154742327..154748671hg38UCSC Ensembl
Outerchr6:154742161..154748951hg38UCSC Ensembl
chr6:155063461..155069805hg19UCSC Ensembl
Innerchr6:155063461..155069805hg19UCSC Ensembl
Outerchr6:155063295..155070085hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg386345
hg196345
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611328
Supporting Variants
SamplesHG02586
Known GenesSCAF8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12594531
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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