A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6503600



Internal ID9481003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72189046..72196415hg38UCSC Ensembl
chrX:71408896..71416265hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg387370
hg197370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673799
Supporting Variants
SamplesHG01052
Known GenesPIN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6503600
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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