A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14416064



Internal ID2329375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25519657..25528838hg38UCSC Ensembl
Innerchr12:25519657..25528838hg38UCSC Ensembl
Outerchr12:25519157..25529338hg38UCSC Ensembl
chr12:25672591..25681772hg19UCSC Ensembl
Innerchr12:25672591..25681772hg19UCSC Ensembl
Outerchr12:25672091..25682272hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg389182
hg199182
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628900
Supporting Variants
SamplesHG02073
Known GenesIFLTD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14416064
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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