A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629513



Internal ID6669652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52048410..52049623hg38UCSC Ensembl
Innerchr12:52048460..52049573hg38UCSC Ensembl
Outerchr12:52048293..52049740hg38UCSC Ensembl
chr12:52442194..52443407hg19UCSC Ensembl
Innerchr12:52442244..52443357hg19UCSC Ensembl
Outerchr12:52442077..52443524hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381214
hg191214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14482335
SamplesHG00608
Known GenesNR4A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629513
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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