A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610132



Internal ID6650360
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12479401, essv12479400
SamplesNA19921, HG02611
Known GenesMCHR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610132
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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