A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399549



Internal ID15246512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7471582..7471601hg38UCSC Ensembl
Innerchr12:7471578..7471605hg38UCSC Ensembl
Outerchr12:7471559..7471624hg38UCSC Ensembl
chr12:7624178..7624197hg19UCSC Ensembl
Innerchr12:7624174..7624201hg19UCSC Ensembl
Outerchr12:7624155..7624220hg19UCSC Ensembl
chr12:7515445..7515464hg18UCSC Ensembl
Innerchr12:7515468..7515441hg18UCSC Ensembl
Outerchr12:7515422..7515487hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9655158, essv9655147, essv9655136
SamplesNA12812, NA11918, NA12873
Known GenesCD163
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399549
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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