A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6396714



Internal ID9866893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:115307451..115309757hg38UCSC Ensembl
OuterchrX:115307080..115310127hg38UCSC Ensembl
InnerchrX:114542016..114544322hg19UCSC Ensembl
OuterchrX:114541645..114544692hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg383048
hg193048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666748
Supporting Variants
SamplesNA20538
Known GenesLUZP4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6396714
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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