A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680781



Internal ID5682597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44810918..44814459hg38UCSC Ensembl
Innerchr17:44811418..44813959hg38UCSC Ensembl
Outerchr17:44809918..44815459hg38UCSC Ensembl
chr17:42888286..42891827hg19UCSC Ensembl
Innerchr17:42888786..42891327hg19UCSC Ensembl
Outerchr17:42887286..42892827hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383542
hg193542
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640655
Supporting Variants
SamplesHG00328
Known GenesGJC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680781
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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