A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670556



Internal ID9936661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:50180634..50181723hg38UCSC Ensembl
OuterchrX:50180597..50181773hg38UCSC Ensembl
InnerchrX:49945278..49946365hg19UCSC Ensembl
OuterchrX:49945241..49946415hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg381177
hg191175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5976211, essv6114791
SamplesNA19383, NA19436
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670556
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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