A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6220464



Internal ID9487800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1412018..1412564hg38UCSC Ensembl
chrX:1530911..1531457hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678263
Supporting Variants
SamplesNA18961
Known GenesASMTL, ASMTL-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6220464
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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