A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629375



Internal ID7016197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44738256..44744118hg38UCSC Ensembl
Innerchr12:44738290..44744085hg38UCSC Ensembl
Outerchr12:44738223..44744152hg38UCSC Ensembl
chr12:45132039..45137901hg19UCSC Ensembl
Innerchr12:45132073..45137868hg19UCSC Ensembl
Outerchr12:45132006..45137935hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385863
hg195863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14467394
SamplesHG03130
Known GenesNELL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629375
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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