A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10193455



Internal ID195271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178324592..178332734hg38UCSC Ensembl
Innerchr1:178324636..178332691hg38UCSC Ensembl
Outerchr1:178324549..178332778hg38UCSC Ensembl
chr1:178293727..178301869hg19UCSC Ensembl
Innerchr1:178293771..178301826hg19UCSC Ensembl
Outerchr1:178293684..178301913hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg388143
hg198143
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588032
Supporting Variants
SamplesHG04225
Known GenesRASAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10193455
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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