A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9863528



Internal ID3456255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15160451..15164987hg38UCSC Ensembl
Innerchr1:15160451..15164987hg38UCSC Ensembl
Outerchr1:15160138..15165314hg38UCSC Ensembl
chr1:15486947..15491483hg19UCSC Ensembl
Innerchr1:15486947..15491483hg19UCSC Ensembl
Outerchr1:15486634..15491810hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384537
hg194537
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585302
Supporting Variants
SamplesHG03081
Known GenesC1orf195, TMEM51
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9863528
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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