A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303553



Internal ID14803815
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 StatusM
Merged Variants
Supporting Variantsessv7834622, essv7796642, essv7809385, essv7787178, essv7780944, essv7824450, essv7782431, essv7777336, essv7793837, essv7779185, essv7798466, essv7821437, essv7809897, essv7787739, essv7783593
SamplesNA18561, NA18526, NA07346, NA12812, NA11918, NA18970, NA11831, NA12872, NA12249, NA18961, NA18952, NA12873, NA12749, NA18965, NA18577
Known GenesCD163
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303553
Frequency
Sample Size185
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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