A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14434177



Internal ID4435993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31675069..31677136hg38UCSC Ensembl
Innerchr12:31675069..31677136hg38UCSC Ensembl
Outerchr12:31674750..31677431hg38UCSC Ensembl
chr12:31828003..31830070hg19UCSC Ensembl
Innerchr12:31828003..31830070hg19UCSC Ensembl
Outerchr12:31827684..31830365hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382068
hg192068
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629053
Supporting Variants
SamplesNA18868
Known GenesAMN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14434177
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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