A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669870



Internal ID9935975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:44520621..44522150hg38UCSC Ensembl
OuterchrX:44520584..44522200hg38UCSC Ensembl
InnerchrX:44379867..44381396hg19UCSC Ensembl
OuterchrX:44379830..44381446hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg381617
hg191617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6481621, essv6050993, essv6562930, essv6319456
SamplesHG00151, HG00737, NA19717, HG01149
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669870
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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