A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6291757



Internal ID9322229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120463731..120463957hg38UCSC Ensembl
chrX:119597586..119597812hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659227
Supporting Variants
SamplesNA18516
Known GenesLAMP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6291757
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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