A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9964858



Internal ID3291180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71123716..71220341hg38UCSC Ensembl
Innerchr1:71124216..71219841hg38UCSC Ensembl
Outerchr1:71122716..71221341hg38UCSC Ensembl
chr1:71589399..71686024hg19UCSC Ensembl
Innerchr1:71589899..71685524hg19UCSC Ensembl
Outerchr1:71588399..71687024hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3896626
hg1996626
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586374
Supporting Variants
SamplesHG02923
Known GenesZRANB2-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9964858
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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