A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16078743



Internal ID2209443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50893552..50897188hg38UCSC Ensembl
Innerchr19:50893567..50897174hg38UCSC Ensembl
Outerchr19:50893538..50897203hg38UCSC Ensembl
chr19:51396808..51400444hg19UCSC Ensembl
Innerchr19:51396823..51400430hg19UCSC Ensembl
Outerchr19:51396794..51400459hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383637
hg193637
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644660
Supporting Variants
SamplesHG01988
Known GenesKLKP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16078743
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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