Variant Details

Variant: esv2759382

Internal ID

9634841

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:140777355..141449115	hg38	UCSC Ensembl
Inner	chr5:140156940..140828682	hg19	UCSC Ensembl
Inner	chr5:140137124..140808866	hg18	UCSC Ensembl
Inner	chr5:140137124..140808866	hg17	UCSC Ensembl

Cytoband

5q31.3

Allele length

Assembly	Allele length
hg38	671761
hg19	671743
hg18	671743
hg17	671743

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758019

Samples

NA19204, NA18508, NA12814, NA18603, NA18545, NA12248, NA12750, NA12813, NA19171, NA10846, NA10854, NA07048, NA12762, NA12761, NA12005, NA19159, NA19239, NA11993, NA10847, NA19210, NA19120, NA10831, NA18859, NA18516, NA10838, NA18981, NA12234, NA19202, NA11840, NA19154, NA18532, NA19101, NA12144, NA10856, NA18978, NA06991, NA18961, NA12864, NA18913, NA07348, NA18501, NA06994, NA18987, NA19129, NA18620

Known Genes

LOC101926905, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB17, PCDHB18, PCDHB19P, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGB8P, SLC25A2, TAF7

Method

BAC aCGH

Analysis

Array images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).

Platform

Agilent

Comments

Reference

Redon_et_al_2006

Pubmed ID

17122850

Accession Number(s)

esv2759382

Frequency

Sample Size	270
Observed Gain	45
Observed Loss	0
Observed Complex	0
Frequency	n/a