A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671097



Internal ID9590516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155560499..155560768hg38UCSC Ensembl
chrX:154790160..154790429hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5520608, essv6422475, essv5589188, essv6427605, essv6094407, essv6035715, essv5409105, essv6280132, essv5496381, essv6053028, essv6076084, essv5519737, essv6293475, essv6249349, essv5546093
SamplesNA19712, NA11931, HG00122, HG01183, HG00268, HG01066, NA19102, NA11892, NA19382, NA18940, NA11829, NA12717, HG00641, NA18853, HG00272
Known GenesTMLHE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671097
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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