A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339264



Internal ID15186251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:74390716..74390765hg38UCSC Ensembl
InnerchrX:74390712..74390769hg38UCSC Ensembl
OuterchrX:74390663..74390818hg38UCSC Ensembl
chrX:73610551..73610600hg19UCSC Ensembl
InnerchrX:73610547..73610604hg19UCSC Ensembl
OuterchrX:73610498..73610653hg19UCSC Ensembl
chrX:73527276..73527325hg18UCSC Ensembl
InnerchrX:73527329..73527272hg18UCSC Ensembl
OuterchrX:73527223..73527378hg18UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8978366, essv8978363, essv8978368, essv8978367, essv8978361, essv8978360, essv8978364, essv8978362, essv8978365
SamplesNA11995, NA18861, NA11931, NA07346, NA18948, NA19225, NA19108, NA18517, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3339264
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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