A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680592



Internal ID5682408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44045070..44047343hg38UCSC Ensembl
Innerchr17:44045070..44047343hg38UCSC Ensembl
Outerchr17:44044880..44047494hg38UCSC Ensembl
chr17:42122438..42124711hg19UCSC Ensembl
Innerchr17:42122438..42124711hg19UCSC Ensembl
Outerchr17:42122248..42124862hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382274
hg192274
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640641
Supporting Variants
SamplesNA19117
Known GenesLSM12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680592
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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