A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594742



Internal ID6982062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237401278..237406744hg38UCSC Ensembl
Innerchr2:237401278..237406744hg38UCSC Ensembl
Outerchr2:237401164..237406843hg38UCSC Ensembl
chr2:238309921..238315387hg19UCSC Ensembl
Innerchr2:238309921..238315387hg19UCSC Ensembl
Outerchr2:238309807..238315486hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385467
hg195467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10886653, essv10886651, essv10886652, essv10886650
SamplesHG00304, HG01456, HG00373, HG00116
Known GenesCOL6A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594742
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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