A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7787178



Internal ID13727617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7471578..7471579hg38UCSC Ensembl
Innerchr12:7471561..7471596hg38UCSC Ensembl
Outerchr12:7471560..7471597hg38UCSC Ensembl
chr12:7624174..7624175hg19UCSC Ensembl
Innerchr12:7624157..7624192hg19UCSC Ensembl
Outerchr12:7624156..7624193hg19UCSC Ensembl
chr12:7515441..7515442hg18UCSC Ensembl
Innerchr12:7515459..7515424hg18UCSC Ensembl
Outerchr12:7515423..7515460hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38303
hg19303
hg18303
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303553
Supporting Variants
SamplesNA18561
Known GenesCD163
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7787178
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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