A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599544



Internal ID6639808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8302695..8303753hg38UCSC Ensembl
Innerchr4:8302709..8303740hg38UCSC Ensembl
Outerchr4:8302682..8303767hg38UCSC Ensembl
chr4:8304422..8305480hg19UCSC Ensembl
Innerchr4:8304436..8305467hg19UCSC Ensembl
Outerchr4:8304409..8305494hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11337975
SamplesHG02078
Known GenesHTRA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599544
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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