A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6049932



Internal ID9027335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81207568..81208521hg38UCSC Ensembl
chrX:80463067..80464020hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38954
hg19954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2674896
Supporting Variants
SamplesNA18632
Known GenesSH3BGRL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6049932
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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