A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609039



Internal ID6649271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53990701..54001629hg38UCSC Ensembl
Innerchr6:53990724..54001607hg38UCSC Ensembl
Outerchr6:53990679..54001652hg38UCSC Ensembl
chr6:53855499..53866427hg19UCSC Ensembl
Innerchr6:53855522..53866405hg19UCSC Ensembl
Outerchr6:53855477..53866450hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3810929
hg1910929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12358420, essv12358422, essv12358421
SamplesHG02691, HG01709, HG01130
Known GenesMLIP-IT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609039
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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