A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597444



Internal ID6972290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113852798..113901295hg38UCSC Ensembl
Innerchr3:113852805..113901289hg38UCSC Ensembl
Outerchr3:113852792..113901302hg38UCSC Ensembl
chr3:113571645..113620142hg19UCSC Ensembl
Innerchr3:113571652..113620136hg19UCSC Ensembl
Outerchr3:113571639..113620149hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3848498
hg1948498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11106891, essv11106890, essv11106889
SamplesHG01676, HG00371, HG01781
Known GenesGRAMD1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597444
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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