A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10403800



Internal ID3345244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6749542..6762640hg38UCSC Ensembl
Innerchr2:6749566..6762617hg38UCSC Ensembl
Outerchr2:6749519..6762664hg38UCSC Ensembl
chr2:6889673..6902771hg19UCSC Ensembl
Innerchr2:6889697..6902748hg19UCSC Ensembl
Outerchr2:6889650..6902795hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3813099
hg1913099
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589732
Supporting Variants
SamplesHG02982
Known GenesLINC00487
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10403800
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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