A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14482335



Internal ID4484151
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629513
Supporting Variants
SamplesHG00608
Known GenesNR4A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14482335
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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