A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10684183



Internal ID1152238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:136237554..136239110hg38UCSC Ensembl
Innerchr2:136237610..136239054hg38UCSC Ensembl
Outerchr2:136237498..136239166hg38UCSC Ensembl
chr2:136995124..136996680hg19UCSC Ensembl
Innerchr2:136995180..136996624hg19UCSC Ensembl
Outerchr2:136995068..136996736hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg381557
hg191557
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592593
Supporting Variants
SamplesHG01029
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10684183
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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