A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10051648



Internal ID53464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107888540..107889612hg38UCSC Ensembl
Innerchr1:107888572..107889580hg38UCSC Ensembl
Outerchr1:107888508..107889644hg38UCSC Ensembl
chr1:108431162..108432234hg19UCSC Ensembl
Innerchr1:108431194..108432202hg19UCSC Ensembl
Outerchr1:108431130..108432266hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381073
hg191073
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587117
Supporting Variants
SamplesHG02577
Known GenesVAV3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10051648
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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