A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10993601



Internal ID1145268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44340618..44345332hg38UCSC Ensembl
Innerchr3:44340632..44345318hg38UCSC Ensembl
Outerchr3:44340604..44345346hg38UCSC Ensembl
chr3:44382110..44386824hg19UCSC Ensembl
Innerchr3:44382124..44386810hg19UCSC Ensembl
Outerchr3:44382096..44386838hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384715
hg194715
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596033
Supporting Variants
SamplesHG00978
Known GenesTCAIM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10993601
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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