A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662461



Internal ID9581880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:155646791..155651237hg38UCSC Ensembl
OuterchrX:155646634..155651390hg38UCSC Ensembl
InnerchrX:154876452..154880898hg19UCSC Ensembl
OuterchrX:154876295..154881051hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg384757
hg194757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6435771, essv6396659
SamplesHG01140, NA12046
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662461
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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