A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9655147



Internal ID12846128
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 StatusS
Merged Variantsesv3399549
Supporting Variants
SamplesNA11918
Known GenesCD163
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9655147
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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