A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10432562



Internal ID2036102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23281113..23284597hg38UCSC Ensembl
Innerchr2:23281113..23284597hg38UCSC Ensembl
Outerchr2:23280974..23284726hg38UCSC Ensembl
chr2:23503984..23507468hg19UCSC Ensembl
Innerchr2:23503984..23507468hg19UCSC Ensembl
Outerchr2:23503845..23507597hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg383485
hg193485
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590055
Supporting Variants
SamplesHG01866
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10432562
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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