A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15797893



Internal ID4894100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9205196..9206976hg38UCSC Ensembl
Innerchr18:9205196..9206976hg38UCSC Ensembl
Outerchr18:9204991..9207186hg38UCSC Ensembl
chr18:9205194..9206974hg19UCSC Ensembl
Innerchr18:9205194..9206974hg19UCSC Ensembl
Outerchr18:9204989..9207184hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg381781
hg191781
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641737
Supporting Variants
SamplesNA12414
Known GenesANKRD12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15797893
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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