A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15987323



Internal ID4512834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7472792..7474462hg38UCSC Ensembl
Innerchr19:7472845..7474410hg38UCSC Ensembl
Outerchr19:7472740..7474515hg38UCSC Ensembl
chr19:7537678..7539348hg19UCSC Ensembl
Innerchr19:7537731..7539296hg19UCSC Ensembl
Outerchr19:7537626..7539401hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381671
hg191671
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643586
Supporting Variants
SamplesHG04015
Known GenesLOC100128573
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15987323
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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