A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12479401



Internal ID2481217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99956411..99959920hg38UCSC Ensembl
Innerchr6:99956414..99959917hg38UCSC Ensembl
Outerchr6:99956408..99959923hg38UCSC Ensembl
chr6:100404287..100407796hg19UCSC Ensembl
Innerchr6:100404290..100407793hg19UCSC Ensembl
Outerchr6:100404284..100407799hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg383510
hg193510
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610132
Supporting Variants
SamplesNA19921
Known GenesMCHR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12479401
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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