A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10961149



Internal ID2072421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:27250826..27276243hg38UCSC Ensembl
Innerchr3:27250842..27276228hg38UCSC Ensembl
Outerchr3:27250811..27276259hg38UCSC Ensembl
chr3:27292317..27317734hg19UCSC Ensembl
Innerchr3:27292333..27317719hg19UCSC Ensembl
Outerchr3:27292302..27317750hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3825418
hg1925418
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595664
Supporting Variants
SamplesHG01885
Known GenesNEK10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10961149
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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